PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 14 2 1996 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 13 2 1996 2016
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.060 None 0.667 6 2003 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 5 4 2008 2019
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		disease Neoplastic Process 167 41 0.050 None 0.600 5 2003 2017
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		disease Neoplastic Process 31 8 0.040 None 1.000 4 2015 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2000 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 1995 2011
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 3 2 2008 2011
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 2 1 2010 2012
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 2 2 2019 2019
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.020 None 1.000 2 2017 2018
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.020 None 1.000 2 1997 2002
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2013 2016
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		disease Finding 3 3 0.500 None 1.000 2 1 1996 1998
CUI: C2986682
Disease: Locally Recurrent Malignant Neoplasm
Locally Recurrent Malignant Neoplasm 		disease Neoplastic Process 68 1 0.020 None 1.000 2 2013 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2013 2014
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.020 None 1.000 2 2014 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 0.500 2 2011 2013
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2012 2012
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2010 2010
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2019 2019
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2002 2002
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		phenotype Organ or Tissue Function 41 259 0.100 None 1.000 1 6 2010 2010